日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Oral splicing modulator branaplam in Huntington's disease: a phase 2 randomized controlled trial

口服剪接调节剂布拉那普拉姆治疗亨廷顿病:一项 II 期随机对照试验

Borowsky, Beth; Ramos, Harry; Caputo, Angelika; Hartmann, Andreas; Faller, Thomas; Peters, Thomas; Sui, Yihan; Liu, Fonda; Meadowcroft, Mark; David, Olivier J; Laisney, Marc; Kinhikar, Arvind; Marder, Karen S; Tabrizi, Sarah J; Landwehrmeyer, G Bernhard; Leavitt, Blair R

Genetic therapies for neurological diseases

神经系统疾病的基因疗法

Rahim, Ahad A; Kurian, Manju A; Zhou, Haiyan; Ferguson, Ross; Tabrizi, Sarah J; Lignani, Gabriele; Aquilina, Kristian; Waddington, Simon N

Discovery of disrupted sustained attention and altered functional connectivity in far-from-onset Huntington's disease gene-expanded young adults

在亨廷顿病基因扩增的远期青年人中发现持续注意力受损和功能连接改变

Langley, Christelle; Leocadi, Michela; Hobbs, Nicola Z; Farag, Mena; Murphy, Michael J; Fayer, Kate; Scahill, Rachael I; Rowe, James B; Robbins, Trevor W; Tabrizi, Sarah J; Sahakian, Barbara J

Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's Disease

脑脊液中前脑啡肽水平可预测亨廷顿病患者纹状体萎缩,且早于临床运动症状的诊断数十年。

Farag, Mena; Murphy, Michael J; Hobbs, Nicola Z; Leocadi, Michela; Fayer, Kate; Thackeray, Olivia; Gobom, Johan; Ciosi, Marc; Heslegrave, Amanda; Zetterberg, Henrik; Langbehn, Douglas R; Monckton, Darren G; Wild, Edward J; Tabrizi, Sarah J; Scahill, Rachael I

Huntington's disease clinical trials update: October 2025

亨廷顿舞蹈症临床试验最新进展:2025年10月

Farag, Mena; Tabrizi, Sarah J; Wild, Edward J

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis

亨廷顿病患者血液中体细胞CAG重复序列扩增与神经退行性变生物标志物相关,且这种关联在临床运动症状出现前数十年就已存在。

Scahill, Rachael I; Farag, Mena; Murphy, Michael J; Hobbs, Nicola Z; Leocadi, Michela; Langley, Christelle; Knights, Harry; Ciosi, Marc; Fayer, Kate; Nakajima, Mitsuko; Thackeray, Olivia; Gobom, Johan; Rönnholm, John; Weiner, Sophia; Hassan, Yara R; Ponraj, Nehaa K P; Estevez-Fraga, Carlos; Parker, Christopher S; Malone, Ian B; Hyare, Harpreet; Long, Jeffrey D; Heslegrave, Amanda; Sampaio, Cristina; Zhang, Hui; Robbins, Trevor W; Zetterberg, Henrik; Wild, Edward J; Rees, Geraint; Rowe, James B; Sahakian, Barbara J; Monckton, Darren G; Langbehn, Douglas R; Tabrizi, Sarah J

Cell-specific mechanisms drive connectivity across the time course of Huntington's disease

细胞特异性机制驱动亨廷顿病病程中的连接性

Estevez-Fraga, Carlos; Sebenius, Isaac; Hansen, Justine Y; Hänisch, Benjamin; Zeun, Paul; Scahill, Rachael I; Gregory, Sarah; Johnson, Eilanoir B; Wild, Edward J; Byrne, Lauren M; Durr, Alexandra; Landwehrmeyer, Bernhard; Leavitt, Blair R; Misic, Bratislav; Valk, Sofie Louise; Rees, Geraint; Tabrizi, Sarah J; McColgan, Peter

The breaking point where repeat expansion triggers neuronal collapse in Huntington's disease

亨廷顿病中重复序列扩增引发神经元崩溃的临界点

Flower, Michael D; Tabrizi, Sarah J

Brain Age as a New Measure of Disease Stratification in Huntington's Disease

脑龄作为亨廷顿病疾病分层的新指标

Abeyasinghe, Pubu M; Cole, James H; Razi, Adeel; Poudel, Govinda R; Paulsen, Jane S; Tabrizi, Sarah J; Long, Jeffrey D; Georgiou-Karistianis, Nellie

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

亨廷顿病表型模拟综合征再探:临床比较与新一代测序探索

Koriath, Carolin Anna Maria; Guntoro, Fernando; Norsworthy, Penelope; Dolzhenko, Egor; Eberle, Michael; Hensman Moss, Davina J; Flower, Michael; Hummerich, Holger; Rosser, Anne Elizabeth; Tabrizi, Sarah J; Mead, Simon; Wild, Edward J